Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations

European Journal of Paediatric Neurology

Volumn 17, Issue 4, 2013, Pages 348-352

  Jóźwiak, Sergiusz ^a   Nabbout, Rima ^b   Curatolo, Paolo ^c  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Clinical recommendations; Consensus; Mammalian target of rapamycin (mTOR); Subependymal giant cell astrocytoma (SEGA); Tuberous sclerosis complex (TSC)

Indexed keywords

EVEROLIMUS; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR;

ARTICLE; CANCER SURGERY; CLINICAL FEATURE; DISEASE ASSOCIATION; GAMMA KNIFE RADIOSURGERY; HUMAN; NEUROIMAGING; NEUROSURGERY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RISK FACTOR; SUBEPENDYMAL GIANT CELL ASTROCYTOMA; TUBEROUS SCLEROSIS; TUMOR REGRESSION;

ADOLESCENT; ASTROCYTOMA; CEREBRAL VENTRICLES; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MALE; MEDICATION RECONCILIATION; NEUROSURGERY; RADIOSURGERY; TOR SERINE-THREONINE KINASES; TUBEROUS SCLEROSIS; YOUNG ADULT;

EID: 84878820005     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.12.008     Document Type: Article

References (33)

1. P. Curatolo Tuberous sclerosis Lancet 372 9639 2008 657 668
2. J. Borkowska Tuberous sclerosis complex: tumors and tumorigenesis Int J Dermatol 50 2011 13 20
3. M.A. Ekici Surgical timing of the subependymal giant cell astrocytoma (SEGA) with the patients of tuberous sclerosis complex Turk Neurosurg 21 2011 315 324
4. R. Nabbout Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis J Neurol Neurosurg Psychiatry 66 1999 370 375
5. S. Goh Subependymal giant cell tumors in tuberous sclerosis complex Neurology 63 2004 1457 1461
6. J.R. Yates Tuberous sclerosis Eur J Hum Genet 14 2006 1065 1073
7. M.E. Adriaensen Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature Eur J Neurol 16 2009 691 696
8. W. Grajkowska Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas Folia Neuropathol 49 2011 39 46
9. C.J. Campen, and B.E. Porter Subependymal giant cell astrocytoma (SEGA) treatment update Curr Treat Options Neurol 13 2011 380 385
10. R. Moavero The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective Childs Nerv Syst 27 2011 1203 1210
11. T. Jiang The diagnosis and treatment of subependymal giant cell astrocytoma combined with tuberous sclerosis Childs Nerv Syst 27 2011 55 62
12. M. Berhouma Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective World J Pediatr 6 2010 103 110
13. P. Sun Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis Curr Med Res Opin 28 2012 657 663
14. S. de Ribaupierre Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate? Neurosurgery 60 2007 83 89
15. P. Major Potential of mTOR inhibitors for the treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex Aging 3 2011 189 191
16. D.N. Franz Rapamycin causes regression of astrocytomas in tuberous sclerosis complex Ann Neurol 59 2006 490 498
17. D.A. Krueger Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis N Engl J Med 363 2010 1801 1811
18. M. Perek-Polnik Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex Eur J Paediatr Neurol 16 2012 83 85
19. H.L. Kenerson Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors Cancer Res 62 2002 5645 5650
20. A.R. Tee Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling Proc Natl Acad Sci U S A 99 2002 13571 13576
21. K.A. Orlova, and P.B. Crino The tuberous sclerosis complex Ann N Y Acad Sci 1184 2010 87 105
22. J.A. Chan Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation J Neuropathol Exp Neurol 63 2004 1236 1242
23. S. Jóźwiak Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis J Child Neurol 19 2004 102 106
24. S. Tabuchi Subependymal giant cell astrocytoma with positive tuberin expression-case report Neurol Med Chir (Tokyo) 43 2003 616 618
25. A. Büki Occlusive hydrocephalus complicating tuberous sclerosis: report of two cases Eur J Neurol 3 1996 255 259
26. J. Jozwiak Immunohistochemical and microscopic studies on giant cells in tuberous sclerosis Histol Histopathol 20 2005 1321 1326
27. H. Takei Cytologic features of subependymal giant cell astrocytom: a review of 7 cases Acta Cytol 52 2008 445 450
28. E.S. Roach Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria J Child Neurol 13 1998 624 628
29. Votubia (everolimus). Summary of product characteristics. Available at: http://www.ema.europa.eu/docs/en-GB/document-library/EPAR-Product-Information/ human/002311/WC500112238.pdf.
30. K.J. Park Gamma knife surgery for subependymal giant cell astrocytomas. Clinical article J Neurosurg 114 2011 808 813
31. Krueger DA, et al. Long-term safety and efficacy results from an extension phase of an open-label, prospective, phase 1/2 trial of everolimus in patients with subependymal giant cell astrocytomas in tuberous sclerosis complex. In: Presented at the international TSC research conference. Washington DC; July 2011.
32. D.N. Franz Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial Lancet 381 9861 2013 125 132
33. D.N. Franz Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex J Child Neurol 2012 Jul 17 [Epub ahead of print]